Literature DB >> 14846558

Hereditary optic atrophy with dominant transmission; three Danish families.

C V LODBERG, A LUND.   

Abstract

Entities:  

Keywords:  EYES

Mesh：

Year:  1950        PMID： 14846558     DOI： 10.1111/j.1755-3768.1950.tb00001.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN： 0001-639X


× No keyword cloud information.
  7 in total

1.  Dominantly inherited optic atrophy.

Authors:  R JOSEPH; J B DAVEY
Journal:  Br J Ophthalmol       Date:  1958-07       Impact factor: 4.638

2.  [Hereditary optic atrophies].

Authors:  C M Poloschek; W A Lagrèze
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

Review 3.  Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

Authors:  M Votruba; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

4.  Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.

Authors:  A Lunkes; U Hartung; C Magariño; M Rodríguez; A Palmero; L Rodríguez; L Heredero; J Weissenbach; J Weber; G Auburger
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

5.  Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Authors:  Nico Fuhrmann; Simone Schimpf; York Kamenisch; Beate Leo-Kottler; Christiane Alexander; Georg Auburger; Eberhart Zrenner; Bernd Wissinger; Marcel V Alavi
Journal:  Mol Neurodegener       Date:  2010-06-14       Impact factor: 14.195

6.  Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis.

Authors:  G Del Porto; E M Vingolo; K Steindl; R Forte; A Iannaccone; E Rispoli; M R Pannarale
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-12       Impact factor: 3.117

7.  Electrophysiology and colour perimetry in dominant infantile optic atrophy.

Authors:  T A Berninger; W Jaeger; H Krastel
Journal:  Br J Ophthalmol       Date:  1991-01       Impact factor: 4.638
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.